trichothiodystrophy syndromes/asthenia

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[Trichothiodystrophy: progresssive manifestations].

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BACKGROUND Trichothiodystrophy is an autosomal recessive genodermatosis associating congenital dysplasia of the hair and neuroectodermal defects. Clinical expression is variable, although abnormalities are generally noted from birth. We report trichothiodystrophy in two brothers with the same

Apparent fragility of African hair is unrelated to the cystine-rich protein distribution: a cytochemical electron microscopic study.

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A feature of black African hair is an apparent increased fragility of the hair shaft compared to other ethnic groups (as measured by the tensile force needed to break the hair fibre). This has certain similarities to that reported for trichorrhexis nodosa (weathering secondary to physical damage)

Mutations in XPB and XPD helicases found in xeroderma pigmentosum patients impair the transcription function of TFIIH.

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As part of TFIIH, XPB and XPD helicases have been shown to play a role in nucleotide excision repair (NER). Mutations in these subunits are associated with three genetic disorders: xeroderma pigmentosum (XP), Cockayne syndrome (CS) and trichothiodystrophy (TTD). The strong heterogeneous clinical

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Herbal & Natural Medicine

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